A5020642145- Congenital heart defects research
- Congenital Heart Disease Studies
- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- Genomic variations and chromosomal abnormalities
- Cardiac Structural Anomalies and Repair
- Aortic Disease and Treatment Approaches
- Cardiovascular Function and Risk Factors
- Viral Infections and Immunology Research
- Genomics and Rare Diseases
- Aortic aneurysm repair treatments
- Connective tissue disorders research
- Cardiac Valve Diseases and Treatments
- Protein Tyrosine Phosphatases
- Coronary Artery Anomalies
- RNA modifications and cancer
- Renal and related cancers
- Developmental Biology and Gene Regulation
- Genetics and Neurodevelopmental Disorders
- Muscle Physiology and Disorders
- Cardiac Arrhythmias and Treatments
- Tracheal and airway disorders
- Williams Syndrome Research
- Mitochondrial Function and Pathology
- Cardiac pacing and defibrillation studies
Indiana University – Purdue University Indianapolis
2016-2025
Indiana University School of Medicine
2016-2025
Indiana University
2016-2025
University School
2016-2025
Indiana University Bloomington
2024
Baylor College of Medicine
2002-2023
American College of Medical Genetics
2023
Field Museum of Natural History
2019-2023
Science Wares (United States)
2015-2021
Riley Hospital for Children
2016-2020
Objectives. The aim of this study was to elucidate the frequency major clinical manifestations in children with mitochondrial disease and establish their course, prognosis, rates survival depending on features. Methods. We performed a retrospective review medical records 400 patients who were referred for evaluation disease. By use modified Walker criteria, only assigned definite diagnosis included study. Results. A total 113 pediatric identified. 102 (90%) underwent muscle biopsy as part...
Dominant human genetic diseases that impair reproductive fitness and have high locus heterogeneity constitute a problem for gene discovery because the usual criterion of finding more mutations in specific genes than expected by chance may require extremely large populations. Heterotaxy (Htx), congenital heart disease resulting from abnormalities left-right (LR) body patterning, has features suggesting many cases fall into this category. In setting, appropriate model systems provide means to...
Leptin is a powerful inhibitor of bone formation in vivo . This antiosteogenic function involves leptin binding to its receptors on ventromedial hypothalamic neurons, the autonomous nervous system and β-adrenergic osteoblasts. However, mechanisms whereby controls neurons remain unclear. In this study, we compared ability regulate body weight mass show that anorexigenic functions are affected by similar amounts leptin. Using knock-in LacZ locus, failed detect any synthesis central system....
Dystrophin gene mutations cause 2 common muscular dystrophies, Duchenne dystrophy (DMD) and Becker (BMD). Both are frequently associated with dilated cardiomyopathy (DCM) premature death. We hypothesized that early diagnosis treatment of DCM in DMD/BMD patients would lead to ventricular remodeling specific dystrophin predict cardiac involvement.Sixty-nine boys DMD (n=62) BMD (n=7) (mean age, 12.9 13.7 years, respectively) were referred our Cardiovascular Genetics Clinic for evaluation,...
NODAL and its signaling pathway are known to play a key role in specification patterning of vertebrate embryos. Mutations several genes encoding components the have previously been implicated pathogenesis human left–right (LR) defects. Therefore, NODAL, member TGF-β superfamily developmental regulators, is strong candidate be functionally involved congenital LR axis defects or heterotaxy. Here we investigated whether variants present patients with heterotaxy and/or isolated cardiovascular...
Heterotaxy, a birth defect involving left-right patterning defects, and primary ciliary dyskinesia (PCD), sinopulmonary disease with dyskinetic/immotile cilia in the airway are seemingly disparate diseases. However, they have an overlapping genetic etiology mutations genes, reflection of common requirement for motile clearance. While PCD is monogenic recessive disorder, heterotaxy has more complex, largely non-monogenic etiology. In this study, we show novel dynein gene DNAH6 can cause...
Genetic diseases that affect the cardiovascular system are relatively common and include cardiac channelopathies, cardiomyopathies, aortopathies, hypercholesterolemias, structural of heart great vessels. The rapidly expanding availability clinical genetic testing leverages decades research into origins these diseases, helping inform diagnosis, management, prognosis. Although a number guidelines statements detail best practices for testing, there is paucity pediatric-focused addressing unique...
X-linked heterotaxy (HTX1) is a rare developmental disorder characterized by disturbances in embryonic laterality and other midline field defects. HTX1 results from mutations ZIC3, member of the GLI transcription factor superfamily. A targeted deletion murine Zic3 locus has been created to investigate its function interactions with molecular components left-right axis pathway. Embryonic lethality seen approximately 50% null mice an additional 30% perinatal period. Null embryos have defects...
The formation of the anterior visceral endoderm (AVE) in pre-gastrulation mouse embryo represents a crucial event patterning anterior-posterior axis. Here, we show that transforming growth factor beta (Tgfbeta) family member Gdf3 (growth-differentiation 3), close relative Xenopus Vg1, resembles Tgfbeta ligand Nodal both its signaling activity and role AVE vivo. Thus, cell culture, requires EGF-CFC co-receptor Cripto can be inhibited by Lefty antagonists. In embryos, misexpression results...
<h3>Background:</h3> Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality. <h3>Methods:</h3> This study aimed to identify the mutation present in four unrelated patients who presented as infants isolated hypertrophic cardiomyopathy. <h3>Results:</h3> In all four, novel mitochondrial m.8528T→C was identified. results change of initiation codon ATPase 6 threonine concurrent from highly conserved hydrophobic amino acid, tryptophan, at...